Orphanet: Spinocerebellar ataxia type 25

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Spinocerebellar ataxia type 25

Disease definition

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

ORPHA:101111

Classification level: Disorder

Synonym(s):
- SCA25
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: All ages
ICD-10: G11.8
ICD-11: 8A03.16
OMIM: 608703
UMLS: C1837518
MeSH: C537202
GARD: 9996
MedDRA: -

Summary

Epidemiology

Fewer than 10 cases in a 4-generation French family have been reported to date.

Clinical description

Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal (GI) disorders such as vomiting and abdominal pain as initial symptoms. GI problems can persist. Scoliosis and urinary problems (nycturia or urinary urgency) are also observed. Head magnetic resonance imaging (MRI) shows severe global cerebellar atrophy like in SCA5 and SCA6 (see these terms).

Etiology

SCA25 maps to chromosome 2p15-p21. Repeat expansion detection failed to identify CAG repeat expansion.

Prognosis

There is insufficient clinical data to draw conclusions concerning prognosis.

Expert reviewer(s): Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)

Detailed information

General public

Article for general public
Svenska (2021) - Socialstyrelsen

Disease review articles

Review article
English (2011) - Orphanet J Rare Dis

Clinical genetics review
English (2022) - GeneReviews

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